| umls-concept:C1563715 | skos:definition | NCI: A form of long QT syndrome characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers.,MSH: A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential. | lld:umls |
